Canonical Allele Identifier: CA2628325162
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412479dup , CM000677.2:g.48412479dup GRCh38
NC_000015.9:g.48704676dup , CM000677.1:g.48704676dup GRCh37
NC_000015.8:g.46491968dup NCBI36
NG_008805.2:g.238310dup , LRG_778:g.238310dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1034+90dup ENSP00000453958.2:n.*1034+90dup
ENST00000674301.2:c.*1739+90dup ENSP00000501333.2:n.*1739+90dup
ENST00000682158.1:n.1607+90dup
ENST00000682170.1:n.2407+90dup
ENST00000682767.1:n.1523+90dup
ENST00000316623.10:c.8226+90dup MANE Select ENSP00000325527.5:n.8226+90dup
ENST00000674301.1:c.3392+90dup ENSP00000501333.1:n.3392+90dup
ENST00000316623.9:c.8226+90dup ENSP00000325527.5:n.8226+90dup
ENST00000559133.5:c.3595+90dup
ENST00000561429.1:n.481+90dup
NM_000138.4:c.8226+90dup , LRG_778t1:c.8226+90dup NP_000129.3:n.8226+90dup
NM_000138.5:c.8226+90dup MANE Select NP_000129.3:n.8226+90dup